Table 1.
Phenotypic features of nine patients with deletions of 15q13
| Patient ID / inheritance | Cognitive | Growth | Facial features | Hands | Neurologic | Other |
|---|---|---|---|---|---|---|
| 69/06 | Moderate delays; | BW 3rd centile | Mild hypertelorism; | Moderate to severe | EEG: unusual delta-theta | |
| de novo, | Brunet-Lezine global | OFC (birth) 25th centile | prominent philtrum; | hypotonia; | activity with sporadic slow | |
| maternal | score 0.37 | At 2 yrs: | everted upper lip; | stereotypic hand | waves. | |
| origin | Wt 75th centile | small L eye; strabismus; | movements; | Normal brain MRI scan | ||
| Ht 50th centile | astigmatism | abnormal EEG | Right-side heart defect | |||
| OFC 10th centile | ||||||
| 02961 | Mild MR; | Wt 25th centile | Brachycephaly; hypertelorism; | Tapering fingers; | ADHD; | EEG: 3 c/s Sharps-Waves |
| de novo, | speech delay | Ht 3rd–10th centile | astigmatism; synophris; | 5th-finger | hypotonia; | complexes, high voltage spikes |
| paternal | OFC 10th–25th centile | wide nasal bridge; anteverted nares; | clinodactyly | myoclonic epilepsy | in frontal region. | |
| origin | short thick philtrum; full, everted | Normal brain MRI scan. | ||||
| upper lip; low-set ears | Early pubarche; hypertrichosis | |||||
| IMR338 | Dev. delay; | Ht 97th centile | Round flat face; upslanting PF; | 5th-finger | Absence seizures; | EEG: abnormal spike and wave |
| maternal | speech difficulties | OFC >97th centile | epicanthic folds; optic pit vs. | clinodactyly; | one tonic clonic | activity, focus in left frontal |
| inheritance | coloboma; everted upper lip; nasal | lax thumb joint; | seizure | area. MRI: patchy change in | ||
| speech | single palmar | white matter adjacent to left | ||||
| crease | ventricle. Hyperphagia, obesity, | |||||
| type II DM | ||||||
| IMR338M | Dev. delay; | Squint | Lax thumb joint | Grand mal | Normal head CT scan | |
| unknown | mild learning | seizures | ||||
| inheritance | difficulties | |||||
| IMR338Cc | Dev. delay; | OFC 90th centile | Deep-set eyes; squint; | Lax thumb joint; | Intractable | |
| maternal | moderate to severe | everted upper lip | long fingers | epilepsy | ||
| inheritance | learning difficulties | |||||
| CMS7906 | Mild to moderate MR | Ht 30th centile | Full round face; upslanting PF; | Short 4th MCPs; | Single seizure, 12 | |
| unknown | IQ 52 | OFC 35th centile | widely-spaced teeth | limited elbow | yrs old | |
| inheritance | extension | |||||
| CMS5826 | Mild to moderate MR | BW 50th centile OFC | Long face; upslanting PF; | Short 5th finger | Mild autism | Normal brain MRI; |
| unknown | IQ 62 at 4 yrs | 30th centile | prominent philtrum; depressed nasal | Aggressive behavior, rage | ||
| inheritance | IQ 44 at 15 yrs | bridge; anteverted nares; thick ear | ||||
| Speech delay | helices | |||||
| CMS5803 | Mild MR | Ht 5th–10th centile | Short philtrum; full lips; everted | Short 4th MCPs; | Hypotonia | |
| maternal | IQ 56 | OFC <3rd centile | lower lip | stiff fingers | ||
| inhertance | ||||||
| CMS7833 | Moderate MR | Ht 5th centile | Round face; depressed nasal bridge; | Short 4th MCPs; | Seizures under | |
| unknown | IQ 34–46 | OFC 3rd centile | smooth philtrum; everted lower lip | stiff fingers | good control with | |
| inheritance | medication | |||||
BW, birth weight; Wt, weight; Ht, height; OFC, occipitofrontal circumference; PF, palpebral fissures; MCP, metacarpals; ADHD, Attention Deficit Hyperactivity Disorder; DM, diabetes mellitus; bold indicates features shared by three or more patients.